| Cell line name |
GM00112 |
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| Synonyms |
GM-112; GM00112A |
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| Accession |
CVCL_F268 |
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| Resource Identification Initiative |
To cite this cell line use: GM00112 (RRID:CVCL_F268) |
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| Comments |
Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
|
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| Disease |
Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
10M |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine H. Toji, Kasinathan Muralidharan; Show fewer authors
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00112
|
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| Cell line databases/resources |
CLO; CLO_0003508
CLO; CLO_0025826
CLDB; cl1475
|
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| Biological sample resources |
BioSamples; SAME43457
|
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| Encyclopedic resources |
Wikidata; Q54836045
|
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| Entry history |
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| Entry creation | 22-Oct-2012 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 18 |
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